Incidental Mutation 'R7044:Vegfc'
ID 547214
Institutional Source Beutler Lab
Gene Symbol Vegfc
Ensembl Gene ENSMUSG00000031520
Gene Name vascular endothelial growth factor C
Synonyms VEGF-C
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 54530567-54639489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54610080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 79 (K79E)
Ref Sequence ENSEMBL: ENSMUSP00000148210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033919] [ENSMUST00000210831]
AlphaFold P97953
Predicted Effect possibly damaging
Transcript: ENSMUST00000033919
AA Change: K79E

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033919
Gene: ENSMUSG00000031520
AA Change: K79E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
PDGF 125 209 5.07e-48 SMART
Pfam:CXCXC 279 291 1.6e-7 PFAM
Pfam:CXCXC 327 339 1.5e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210831
AA Change: K79E

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1070 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mutation of this gene affects the development of the lymphatic system. Homozygous inactivation is embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,815,260 (GRCm39) Q448L possibly damaging Het
Appl1 A G 14: 26,650,634 (GRCm39) S513P possibly damaging Het
Cdhr2 A T 13: 54,881,134 (GRCm39) K1066* probably null Het
Ckap5 T C 2: 91,407,946 (GRCm39) I824T probably benign Het
Cracdl C T 1: 37,651,361 (GRCm39) D1169N possibly damaging Het
Ctbp2 T C 7: 132,616,831 (GRCm39) R35G possibly damaging Het
Dcdc2c T C 12: 28,520,493 (GRCm39) probably benign Het
Eya1 T A 1: 14,301,634 (GRCm39) probably null Het
Fat4 G C 3: 39,064,959 (GRCm39) A4972P probably benign Het
Fat4 C T 3: 39,064,960 (GRCm39) A4972V probably benign Het
Fbxl8 T A 8: 105,993,647 (GRCm39) M1K probably null Het
Glyat T C 19: 12,627,629 (GRCm39) S75P probably benign Het
Gm3543 T A 14: 41,802,023 (GRCm39) I154F probably damaging Het
Gm4565 T A 7: 22,282,795 (GRCm39) M8L probably benign Het
Gpr179 T C 11: 97,240,616 (GRCm39) Q269R probably benign Het
Hjv C A 3: 96,434,790 (GRCm39) H176Q possibly damaging Het
Ikzf2 T C 1: 69,578,060 (GRCm39) H483R possibly damaging Het
Il25 G A 14: 55,170,615 (GRCm39) A63T probably benign Het
Krt27 T A 11: 99,237,640 (GRCm39) N366I probably benign Het
Mfge8 A G 7: 78,792,268 (GRCm39) V219A probably benign Het
Nrbp1 T C 5: 31,407,290 (GRCm39) V373A probably damaging Het
Or4c100 A G 2: 88,356,830 (GRCm39) N301S probably benign Het
Otulinl A G 15: 27,657,321 (GRCm39) probably benign Het
Pcdh20 A G 14: 88,706,607 (GRCm39) I231T probably damaging Het
Pfkp A G 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pikfyve T C 1: 65,286,013 (GRCm39) I1084T probably benign Het
Poteg T C 8: 27,939,923 (GRCm39) C27R probably damaging Het
Ptprz1 G A 6: 23,044,345 (GRCm39) V1266M probably damaging Het
Rpa1 T C 11: 75,203,628 (GRCm39) D358G probably damaging Het
Slx9 T C 10: 77,350,226 (GRCm39) D35G possibly damaging Het
Snapc4 A G 2: 26,259,965 (GRCm39) S495P probably damaging Het
Surf6 A G 2: 26,789,368 (GRCm39) I123T probably damaging Het
Sybu A T 15: 44,541,091 (GRCm39) S324T possibly damaging Het
Trim3 A T 7: 105,267,421 (GRCm39) S319R probably damaging Het
Trmt11 A G 10: 30,466,930 (GRCm39) F72L probably benign Het
Tsks C T 7: 44,593,216 (GRCm39) R61W probably damaging Het
Ube2k T C 5: 65,738,772 (GRCm39) V36A possibly damaging Het
Ube3a T C 7: 58,938,161 (GRCm39) V688A probably damaging Het
Vmn1r77 G A 7: 11,775,761 (GRCm39) R179Q probably benign Het
Vmn2r97 T A 17: 19,134,629 (GRCm39) F16I probably benign Het
Zfp451 A T 1: 33,841,248 (GRCm39) probably benign Het
Zfp600 C T 4: 146,131,892 (GRCm39) Q187* probably null Het
Other mutations in Vegfc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00658:Vegfc APN 8 54,609,983 (GRCm39) splice site probably benign
IGL02120:Vegfc APN 8 54,634,436 (GRCm39) missense possibly damaging 0.96
IGL03344:Vegfc APN 8 54,610,186 (GRCm39) missense possibly damaging 0.64
R0620:Vegfc UTSW 8 54,610,174 (GRCm39) missense probably benign 0.01
R1167:Vegfc UTSW 8 54,639,078 (GRCm39) missense probably benign 0.06
R1826:Vegfc UTSW 8 54,634,347 (GRCm39) missense possibly damaging 0.88
R4151:Vegfc UTSW 8 54,530,824 (GRCm39) missense unknown
R4226:Vegfc UTSW 8 54,612,445 (GRCm39) missense probably damaging 1.00
R4227:Vegfc UTSW 8 54,612,445 (GRCm39) missense probably damaging 1.00
R4414:Vegfc UTSW 8 54,634,130 (GRCm39) missense probably benign 0.02
R5963:Vegfc UTSW 8 54,634,319 (GRCm39) missense probably benign
R6241:Vegfc UTSW 8 54,634,289 (GRCm39) missense probably benign 0.00
R6368:Vegfc UTSW 8 54,634,265 (GRCm39) missense probably damaging 1.00
R6728:Vegfc UTSW 8 54,639,057 (GRCm39) missense probably damaging 0.99
R7776:Vegfc UTSW 8 54,530,835 (GRCm39) missense unknown
R9374:Vegfc UTSW 8 54,622,180 (GRCm39) missense possibly damaging 0.95
R9449:Vegfc UTSW 8 54,610,053 (GRCm39) missense probably benign 0.05
R9663:Vegfc UTSW 8 54,634,338 (GRCm39) missense probably damaging 1.00
R9776:Vegfc UTSW 8 54,633,829 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGATACAATGTCAGTCACATC -3'
(R):5'- TTCACACGGCATAGTCACTG -3'

Sequencing Primer
(F):5'- TGTCAGTCACATCAAACCAAAAAGG -3'
(R):5'- GTGTACAAGGTTCTGTTTGCCCAC -3'
Posted On 2019-05-13